Browsing by Author "Böber, Ece"

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The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism

Cangül, Hakan; Demir, Korcan; Babayiğit, Ömür; Abacı, Ayhan; Böber, Ece (Galenos Publishing, 2015)

Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause ...